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| 1 | Colorectal cancer risk in hamartomatous polyposis syndromes显示文摘Colorectal cancer(CRC) is a major cause of morbidity and mortality around the world, and approximately 5% of them develop in a context of inherited mutations leading to some form of familial colon cancer syndromes. Recognition and characterization of these patients have contributed to elucidate the genetic basis of CRC. Polyposis Syndromes may be categorized by the predominant histological structure found within the polyps. The aim of the present paper is to review the most important clinical features of the Hamartomatous Polyposis Syndromes, a rare group of genetic disorders formed by the peutz-Jeghers syndrome, juvenil polyposis syndrome and PTEN Hamartoma Tumor Syndrome(Bannayan-Riley-Ruvalacaba and Cowden Syndromes). A literature search was performed in order to retrieve the most recent and important papers(articles, reviews, clinical cases and clinical guidelines) regarding the studied subject. We searched for terms such as 'hamartomatous polyposis syndromes', 'Peutz-Jeghers syndrome', 'juvenile polyposis syndrome', 'juvenile polyp', and 'PTEN hamartoma tumour syndrome'(Cowden syndrome, Bananyan-Riley-Ruvalcaba). The present article reports the wide spectrum of disease severity and extraintestinal manifestations, with a special focus on their potential to develop colorectal and other neoplasia. In the literature, the reported colorectal cancer risk for Juvenile Polyposis, Peutz-Jeghers and PTEN Hamartoma Tumor Syndromes are 39%-68%, 39%-57% and 18%, respectively. A review regarding cancer surveillance recommendations is also presented. | Fábio Guilherme Campos Marleny Novaes Figueiredo Carlos Augusto Real Martinez | 2015 | World Journal of Gastrointestinal Surgery2015，7，3： | 7 |
| 2 | 光激酶C基因突变导致的大头精子畸形是阿尔及利亚男性不育症的最常见遗传因素显示文摘克氏综合征和Y染色体微缺失是过去针对男性不育症仅有的两项基因检测分析技术。北非男性经常出现两种罕见的畸形精子症:大头和圆头精子畸形,推荐进行AURKC和DPYl9L2基因检测。对阿尔及利亚男性不育患者进行以上基因检测,评估两种畸形精子症的患病率,并与克氏综合征和Y染色体微缺失的频率进行比较。我们对阿尔及利亚君士坦丁市的IbnRochd医院辅助生殖中心进行不育症咨询的599名患者进行了回顾性研究,其中404人存在精液参数异常现象。14人和7人分别患有典型的大头精子畸形或圆头精子畸形,进而对这些患者进行了AURKC和DPYl9L2基因分析显示,11名大头精子畸形患者存在4URKC基因突变(79%),相当于所有精液异常人群的2.7%。而5名圆头精子畸形患者,相当于1.2%的不育症患者,均存在DPYl9L2基因缺失。通过比较,我们预测该人群中克氏综合症和Y染色体微缺失的患病率分别是1.6%和0.23%。我们的研究表明AURKC基因突变较克氏综合症更常见,它是导致北非男性不育的主要遗传因素。此外,本文也预测了AURKC和DP"觋2基因缺陷发生率分别是Y染色体微缺失发生率的10倍和5倍。 | Leyla Ounis Abdelali Zoghmar Charles Coutton Leila Rouabah Maroua Hachemil Delphine Martinez Guillaume Martinez Ines Bellil Douadi Khelifi Christophe Arnoult Julien Faure Sebti Benbouhedja Abdelkader Rouabah Pierre F Ray | 2015 | Asian Journal of Andrology2015，17，1： | 5 |
| 3 | Duodenal adenoma surveillance in patients with familial adenomatous polyposis显示文摘Familial adenomatous polyposis(FAP) is a hereditary disorder caused by Adenomatous Polyposis Gene mutations that lead to the development of colorectal polyps with great malignant risk throughout life. Moreover, numerous extracolonic manifestations incorporate different clinical features to produce varied individual phenotypes. Among them, the occurrence of duodenal adenomatous polyps is considered an almost inevitable event, and their incidence rates increase as a patient's age advances. Although the majority of patients exhibit different grades of duodenal adenomatosis as they age, only a small proportion(1%-5%) of patients will ultimately develop duodenal carcinoma. Within this context, the aim of the present study was to review the data regarding the epidemiology, classification, genetic features, endoscopic features, carcinogenesis, surveillance and management of duodenal polyps in patients with FAP. | Fábio Guilherme Campos Marianny Sulbaran Adriana Vaz Safatle-Ribeiro Carlos Augusto Real Martinez | 2015 | World Journal of Gastrointestinal Endoscopy2015，7，10： | 3 |
| 4 | Assessment of metal contamination in donana national park (spain) using crayfish (proeamburus elarkia) 显示文摘 | Sanchez Lopez F J Gil Garcia M D Martinez Vidal J | 2004 | Environmental Monitoring and Assessment2004，，93： | 1 |
| 5 | Lightning performance analysis of overhead transmission lines using the EMTP显示文摘 | Martinez J A Castro-Aranda F | 2005 | IEEE Trans on Power Delivery2005，20，3： | 1 |
| 6 | Seven novel point mulations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea larda (f-PCT) 显示文摘 | Cappellini MD Martinez di Montemuros F Tavazzi D | 2001 | Hum Murat2001，17，4： | 1 |
| 7 | Antioxidant and free radical scavenging activities of 5,7,3'-trihydroxy-3,6,4'-trimethoxyflavone from Brickellia veronicaefolia 显示文摘 | PF REZ G R M VARGAS S R MARTINEZ M F J | 2004 | Phytother Res2004，18，5： | 1 |
| 8 | Decreased sperm motility in rats orally exposed to single or mixed pesticides 显示文摘 | Perobelli J E Martinez M F da Silva Franchi C A | 2010 | Journal of Toxicology and Environment Health A2010，73，1314： | 1 |
| 9 | Improved 2-D photonic bandgap structures in microstrip technology显示文摘 | Lopetegi T Falcone F Martinez B | 1999 | Microwave and Optical Technology Letters1999，22，3： | 1 |
| 10 | Diabetes insipidus and adipsic hypermatremia in a patient with a craniopharyngioma显示文摘 | Macias Batista A Martinez Martin F J de Pablos Velasco PL | 1999 | An Med Interna1999，16，2： | 1 |
| 11 | Renal effects of angiotensin Ⅱ-receptor blocka-ed and angiotensin convertase inhibition in man 显示文摘 | Schmitt F Natov S Martinez F | 1996 | Clin Sci1996，90，3： | 1 |
| 12 | Purification and properties of two endochitosanases from Mucor rouxii implicated in its cell wall degradation 显示文摘 | Alfonso C Martinez M J Reyes F | 1992 | Fems Microbiology Letters1992，95，23： | 1 |
| 13 | A 2-tuple fuzzy linguistic representation model for computing with words显示文摘 | Herrera F Martinez L | 2000 | IEEE Transactions on Fuzzy System2000，8，6： | 1 |
| 14 | Hydrolysis study of bis-1,2-(triethoxysilyl) ethane silane by NMR显示文摘 | Diaz-Benito B Velasco F Martinez F J | 2010 | Colloids andSurfaces A: Physicochemical and Engineering Aspects2010，369，13： | 1 |
| 15 | Two bZIP pro- teins from Antirrhinum flowers preferentially bind a hybrid C - box/ G - box motif and help to define a new sub - family of bZIP tran- scription factors显示文摘 | Martinez - Garcia J F Moyano E Alcocer M J | 1998 | Plant J1998，13，4： | 1 |
| 16 | Development of wheezing disorders and asthma in preschool children显示文摘 | Martinez F D | 2002 | Pediatrics2002，109，3： | 1 |
| 17 | A power-efficient all-optical on-chip interconnect using wavelength-based oblivious routing 显示文摘 | N Kirman J F Martinez | 2010 | Acm Sigplan Notices2010，45，3： | 1 |
| 18 | The calculation of potential energy curves of diatomic molecules: the RKR method 显示文摘 | F Castano Juan J de E Martinez | 1983 | J Chm Educ1983，60，2： | 1 |
| 19 | Integration of a consis- tency control module within a consensus model 显示文摘 | Chiclana F Mata F Martinez L | 2008 | Interna- tional Journal of Uncertainty Fuzziness and Knowledge-Based Systems2008，16，1： | 1 |
| 20 | The influence of specific mechanical energy on cornmeal viscosity measured by an on - line systemduring twin - screw extrusion 显示文摘 | Chang Y K Martinez - Bustos F Park T S | 1999 | Brazilian Journal of Chemical Engineering1999，16，3： | 1 |
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